Canonical Allele Identifier: CA308794
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 202090
ClinVar RCV Id: RCV000183904
dbSNP Id: rs794729165
MyVariant Identifiers: chr5:g.155935660_155935662del (hg19) chr5:g.156508650_156508652del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508650_156508652del , CM000667.2:g.156508650_156508652del GRCh38
NC_000005.9:g.155935660_155935662del , CM000667.1:g.155935660_155935662del GRCh37
NC_000005.8:g.155868238_155868240del NCBI36
NG_008693.2:g.643307_643309del , LRG_205:g.643307_643309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.242_244del MANE Select ENSP00000338343.4:p.Gly81del
ENST00000337851.8:c.242_244del ENSP00000338343.4:p.Gly81del
ENST00000435422.7:c.239_241del ENSP00000403003.2:p.Gly80del
ENST00000517913.5:c.242_244del ENSP00000429378.1:p.Gly81del
ENST00000524347.2:c.*106_*108del ENSP00000430794.1:n.*106_*108del
NM_000337.5:c.242_244del , LRG_205t1:c.242_244del NP_000328.2:p.Gly81del
NM_001128209.1:c.239_241del NP_001121681.1:p.Gly80del
NM_172244.2:c.242_244del NP_758447.1:p.Gly81del
XM_005265966.3:c.242_244del XP_005266023.1:p.Gly81del
XM_005265967.1:c.242_244del XP_005266024.1:p.Gly81del
XM_006714911.2:c.242_244del XP_006714974.1:p.Gly81del
XM_011534621.1:c.239_241del XP_011532923.1:p.Gly80del
XM_005265966.5:c.242_244del XP_005266023.1:p.Gly81del
XM_005265967.2:c.242_244del XP_005266024.1:p.Gly81del
XM_011534621.2:c.239_241del XP_011532923.1:p.Gly80del
XM_017009723.2:c.242_244del XP_016865212.1:p.Gly81del
XM_017009724.1:c.242_244del XP_016865213.1:p.Gly81del
NM_001128209.2:c.239_241del NP_001121681.1:p.Gly80del
NM_172244.3:c.242_244del NP_758447.1:p.Gly81del
NM_000337.6:c.242_244del MANE Select NP_000328.2:p.Gly81del
Search 100 bp 5'
Search 100 bp 3'